Figure 4: Functional analysis demonstrating rs3731217 is associated with CDKN2A exon 3 usage. | Nature Communications

Figure 4: Functional analysis demonstrating rs3731217 is associated with CDKN2A exon 3 usage.

From: A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology

Figure 4

(a) Cartoon showing the major protein isoforms encoded by CDKN2A: p14ARF (blue arrows), p16γ (red arrows) and p16INK4a (black arrow). The four main exons are labelled with exon 3 surrounded by a red box. rs3731217 is located in two overlapping intronic splicing elements between exon 1α and exon 1β. The image is modified from AceView70. (b) RNA-seq data from LCLs correlating exon usage with rs3731217 genotype showing that exon 3 usage is significantly associated with the protective G-allele (0, 1 and 2 on the x axis refer to G-allele dosage). Each box plot shows the median rank normalized gene expression (black horizontal line), the first through third quartiles (box) and 1.5 × the interquartile range (whiskers).

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